Variant report

Variant	rs12282576
Chromosome Location	chr11:73242040-73242041
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10047427	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10082565	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10128665	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1054726	1.00[AMR][1000 genomes]
rs11235732	1.00[AMR][1000 genomes]
rs11235744	1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11235750	1.00[AMR][1000 genomes]
rs11235756	0.89[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11235758	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11235766	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11235769	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11235774	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11235777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11235781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11235782	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11235785	0.98[AFR][1000 genomes]
rs11235804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11235808	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11235817	0.87[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11819847	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11822755	1.00[YRI][hapmap]
rs11822862	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11823113	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11823115	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12269810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12270051	0.84[AFR][1000 genomes]
rs12273771	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12274281	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12274787	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs12277410	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12279375	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12279753	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12281470	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12285337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12286840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12286967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12287264	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12287335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12290126	1.00[AMR][1000 genomes]
rs12295567	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13377500	0.89[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17132094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17132131	0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17310361	1.00[MEX][hapmap]
rs2008722	1.00[MEX][hapmap]
rs594814	1.00[MEX][hapmap]
rs610280	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv1048171	chr11:73210060-73271831	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73232600-73249400	Weak transcription	Brain Germinal Matrix	brain
2	chr11:73236600-73244200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr11:73237800-73244200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr11:73238400-73243600	Weak transcription	Aorta	Aorta
5	chr11:73238600-73244000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr11:73239000-73245800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr11:73239600-73242800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:73240000-73242200	Weak transcription	Fetal Stomach	stomach
9	chr11:73240000-73242200	Weak transcription	Osteobl	bone
10	chr11:73240000-73242600	Weak transcription	Ovary	ovary
11	chr11:73240000-73243800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:73240000-73244000	Enhancers	Brain Angular Gyrus	brain
13	chr11:73240000-73244200	Enhancers	Small Intestine	intestine
14	chr11:73240200-73242600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr11:73240200-73242800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:73240200-73243200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:73240200-73243400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:73240200-73243400	Enhancers	Duodenum Mucosa	Duodenum
19	chr11:73240200-73243800	Enhancers	Brain Cingulate Gyrus	brain
20	chr11:73240200-73244400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr11:73240200-73245000	Weak transcription	Fetal Kidney	kidney
22	chr11:73240200-73249600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr11:73240200-73252600	Weak transcription	Placenta	Placenta
24	chr11:73240400-73242200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:73240400-73242200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:73240400-73242200	Weak transcription	Primary T cells from cord blood	blood
27	chr11:73240400-73242200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:73240400-73242400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr11:73240400-73242400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:73240400-73242400	Weak transcription	Right Atrium	heart
31	chr11:73240400-73242600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr11:73240400-73242600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr11:73240400-73242800	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr11:73240400-73243000	Weak transcription	Psoas Muscle	Psoas
35	chr11:73240400-73243200	Weak transcription	Fetal Intestine Small	intestine
36	chr11:73240400-73244000	Enhancers	Brain Hippocampus Middle	brain
37	chr11:73240400-73247800	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr11:73240400-73248600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:73240400-73248600	Weak transcription	Dnd41	blood
40	chr11:73240400-73249200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:73240400-73249400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr11:73240400-73249400	Weak transcription	HMEC	breast
43	chr11:73240400-73249600	Weak transcription	Adipose Nuclei	Adipose
44	chr11:73240400-73251600	Weak transcription	Fetal Intestine Large	intestine
45	chr11:73240400-73253800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr11:73240400-73254400	Weak transcription	Stomach Mucosa	stomach
47	chr11:73240600-73242600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr11:73240600-73243800	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr11:73240600-73249400	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr11:73240600-73255400	Weak transcription	Rectal Smooth Muscle	rectum

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